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Behind the Genes: Daily Summaries Delivered
by Genomics England
At Genomics England, our vision is a world where everyone benefits from genomic healthcare. From the latest research to the lived experiences of those affected by rare conditions and cancer, Behind the Genes brings you closer to the people behind the science. Each month, we release a deep-dive episode, alongside our Genomics 101 series - short explainers designed to make complex terms in genetics and genomics easier to understand.
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- 1 weeks ago30 min
Can we change the rules of medicine?
Advances in genomics are making it possible to develop treatments for individual patients with rare genetic conditions. But how can we get these treatments to the people who need them when traditional medicine development is designed for much larger groups of patients? In this episode, our guests explore the challenges of developing and approving personalised medicines, and how researchers, regulators and patient advocates can work together to bridge the gap between scientific advances and patient access. Our host Sharon Jones is joined by: Dr Dan O’Connor, Executive Director Regulatory, Association of the British Pharmaceutical Industry (ABPI) Julia Vitarello, founder and CEO of Mila’s Miracles Foundation Professor Rich Scott, CEO of Genomics England If you enjoyed today’s conversation, please like and share wherever you listen to your podcasts. “The technology's there, and it's now just saying, "Well, actually, can the system catch up?" And that's really the clear message I think we have to do. We've got to somehow align with the fast-evolving opportunities that new technology will offer us, and ensure that patients get the medicines they really need.” You can download the transcript, or read it below. Sharon Jones: Hello and welcome to Behind the Genes, the podcast that brings you the stories, research, and innovations shaping the future of genomic healthcare. For decades, medicines have been developed and tested for large groups of people, but advances in genomics are opening up new possibilities, including treatments tailored to an individual's genetic condition. So how do you adapt a system built for thousands of patients when there may only be a handful of people in the world who could benefit from a particular treatment? [00:00:30] Today, we're exploring how researchers, regulators, and patient advocates are working together to rethink the way new medicines are developed and approved. I'm Sharon Jones, and joining me today are Dr. Dan O'Connor, executive director regulatory, the Association of the British Pharmaceutical Industry; Julia Vitarello, Mila's mum, and founder and CEO of Mila's Miracles Foundation; and Professor Rich Scott , CEO of Genomics England. [00:01:00] By the way, you're going to hear a powerful story from Julia about her daughter, Mila. Sharon Jones: If you want to hear it in full, the episode is called Mila to Millions, and you can find it in the episode description. Julia, I'd like to start with you. You've shared your story with us on the podcast before, but for listeners who may not know it, can you briefly explain what's brought you here today? Julia: Yeah. Thank you, Sharon. [00:01:30] My daughter, Mila was born completely typical and was running around and hiking and singing and playing like other children until she was six when she was diagnosed with 100% fatal rare genetic disease called Batten Disease. And I was told in just one minute that my daughter would lose all of her abilities and die in the next few years. As you can imagine, my life in many ways ended in that moment. All my hopes and dreams of my daughter just were erased in one minute to the next. [00:02:00] But I saw her fighting. I saw her lose her vision. I saw her lose her ability to eat by mouth and have a G-tube put in and start having up to 30 seizures a day, and she was still smiling and laughing. And I just said, "You know, if she can fight, I can fight." And I started a foundation and raced against time alongside Boston Children's Hospital and Dr. Timothy Yu. And in a very miraculous, Herculean effort to save my daughter's life, we moved to Boston one year later, and my daughter started receiving a medicine called Milasen that was named after her. And the reason it was named after her is because while her condition was already very small with only 25 children in the world at the time, she was the only one that shared that specific mutation and the only one that could benefit from that medicine. And at that time, my daughter then became the first person in the world to receive a medicine for one person. It stopped her disease for the first year, um, but it wasn't in time for her. When she was 10, she died. [00:03:00] And the reason that I am still here is because my daughter showed what was possible, that we now have the incredible science and technology to be able to find the root cause of disease, often a single mutation, and design a medicine, even if it's unique to one person. And so I have been on a mission here to try to figure out how to help the millions of other families like mine in need. Sharon Jones: Julia, thank you for sharing th
- 3 weeks ago12 min
How do we keep medicines safe and working properly?
In this explainer episode, Rachel Brucoli, Deputy Director at the Medicines and Healthcare products Regulatory Agency, explains how we make sure that medicines stay safe and work properly. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or have any other topics you’d like us to explain, let us know on podcast@genomicsengland.co.uk. Read more about the MHRA via their website. You can download the transcript or read it below. Florence: How do we make sure that our medicines stay safe and work properly? My name is Florence Cornish, and today I'm joined by Rachel Brucoli, who is a Deputy Director at the Healthcare products Regulatory Agency, also known as the MHRA. And Rachel is here to tell us much more about the topic Well, firstly, Rachel, thank you so much for joining us today. It's great to have you on. Rachel: Thank you. Nice to be here. Florence: The first question I wanted to ask you is quite a big question and I guess the crux of this entire episode really. Um, but how do we ensure that medicines are safe and work properly before they get to patients? Rachel: Yeah, it's an important question, isn't it? So in the UK, medicines are regulated by the Medicines and Healthcare Products Regulatory Agency or MHRA for short. And that's to ensure they, they are safe, they work correctly in a specified disease, and they're made to a high standard before they reach the public. In line with the relevant law, which is the Human Medicines Regulation, before a medicine is allowed to be placed on the market in the UK, the MHRA reviews safety information from clinical trials to ensure that the medicine does not cause unexpected or unacceptable effects. We also review efficacy data from clinical trials to make sure that the medicine works in the disease or condition and in the patient population that the manufacturer claims it does. Um, another important aspect that's reviewed is how the medicine's manufactured. It's very important that the medicine is made consistently and that every batch meets agreed specifications. Florence: And so you used that word regulation a few times. When we say that medicines are regulated, how do we do that? What does that process actually look like? Rachel: Yeah. So different countries have different laws that govern how medicines are regulated. And as I mentioned before, in the UK, the relevant legislation is the Human Medicines Regulations. In addition, different countries have different pathways or procedures for licensing of medicines, but it's worth noting that the types of data looked at by regulators is similar, and we've got harmonised standards in, in many respects. In the UK, different types of application can be submitted depending on the type of medicine under review. So for example, the data submitted for a brand-new medicine containing a new active substance that hasn't been approved in the UK would differ from that submitted for a generic medicine. The licensing process is triggered when a marketing authorisation application is submitted to the MHRA by a pharmaceutical company or a biotech company. And for new medicines, this application contains a significant amount of data that's been generated over, um, a large number of years. Florence: Mm-hmm. Can you tell us a little bit more about that? What types of information are submitted to you in this process? Rachel: Yes. So there's three main types of information that, that we receive. Um, the first is quality data, and that provides evidence that the medicinal product can be made safely, reliably, and to a high standard. It describes what the medicine's made of, how it's made, and provides evidence that the medicine can be produced consistently. The second body of data contains the results of the non-clinical studies, and there they characterize the pharmacology, and the safety profiles of the active ingredient of the medicine. And the third section of the application is the results and analyses of all the clinical studies conducted with the proposed medicine. These clinical studies will have been conducted in phases, and they're designed to determine the optimal dose of the medicine needed to treat the specific disease and to provide evidence that the medicine works, or as we would say, is efficacious, and that's usually compared to placebo. So, wha
- Sep 30, 202633 min
How are we serving Black communities in health research?
In this episode of Behind the Genes, we explore Black communities and health research. Our guests discuss why some people feel research is not intended for them, how historical mistrust affects participation, and what needs to change to make research more inclusive, transparent and beneficial for everyone. Our host, Sharon Jones, is joined by: Professor Segun Fatumo - Professor and Chair of Genomic Diversity at Queen Mary University of London Christella Matoko - Project manager at Genomics England Hazel Attua - member of the Participant Panel at Genomics England We also hear from Mica and Mary, who took part in the Our health, our stories video on YouTube, who share their reflections on why taking part in research matters for Black communities. As mentioned in the episode, you can also listen to our latest Genomics 101 episode, What is equity in healthcare?, to learn more about what equity means and why it matters in health research and care. “Engaging in research is bigger than you. It shapes your community, and it shapes the lives of the children coming in the future.” You can read the transcript below. Sharon Jones: [00:00:00] Hello, and welcome to Behind the Genes, the podcast that brings you the stories, research, and innovations shaping the future of genomic healthcare. Today, we're exploring Black communities and health research. Why do some Black people feel that research isn't intended for them? What role does trust play in participation? Sharon Jones: And what needs to change to improve health outcomes now and in the future? I'm Sharon Jones, and joining me today are Christella Matoko from Genomics England, [00:00:30] Segun Fatumo, Professor and Chair of Genomic Diversity at Queen Mary's [University of] London, whose work focuses on improving representation and equity in genomic research, and Hazel Attua, who's a member of the Participant Panel at Genomics England. Sharon Jones: A warm welcome to everyone. So before we dive into these topics, let's start first to try and understand how people perceive research and how that can often influence whether they feel it's something for them. So Christella, I'd love to come to you [00:01:00] first. What comes to mind when you hear the words health research? Christella: I think when I'm talking about health research, what comes to mind is the opportunities to understand certain health conditions in different communities, and it's about understanding that we can get better treatments, and these treatments can prevent health inequalities. Although I might look at it from this lens, the whole of the Black community might not. Christella: I have the knowledge of medical care. I work in Genomics England, [00:01:30] so I understand the benefits of, um, health research and how it can improve outcomes within the healthcare. But when you speak about it in terms of the Black community, research doesn't necessarily sit naturally because of all of the historical mistrust that we've, you know, encountered. Sharon Jones: Yeah. Christella: So for me, good healthcare research should ultimately lead to better outcomes for everyone. And I think when I hear [00:02:00] health research, that's like what I like to think about. Sharon Jones: Yeah. Thank you. Thank you for sharing that. And, and Hazel, like coming to you, does that reflect what you've seen or experienced? Sharon Jones: You know, do you feel that research feels relevant to Black communities and why do you think some people may feel hesitant in, in taking part? Hazel: Yeah, I mean, I completely agree with Christella. I think it's difficult for people in the Black community to sometimes trust when research comes out [00:02:30] because previously there's been a lot of mistrust around research because there hasn't always been a lot of research within the Black communities. Hazel: Like when we talk about research, when we talk about, um, for example, with National Genomic Research Library, so when I used to do work with Genomics England- Christella: Mm. Hazel: I specifically was, um, working on the National Genomic Research Library within, um, diverse data. [00:03:00] And so our role was to get more diverse data into the National Genomic Research Library. Hazel: And so for those that don't know what that is, it's like a biobank. And so a biobank is essentially, um, where you help collect samples. So if you've decided to get into research, it's collecting samples, processing samples. So when we decided to do the initiative or when Genomics England decided to do this initiative, I thought it was [00:03:30] amazing because essentially not that much research was done previously for th
- Sep 16, 202611 min
What is equity in healthcare?
In this explainer episode, we’ve asked Sasha Henriques, Director of Equity Assurance at Genomics England, to explain what we mean by the word equity in healthcare and genomics. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or have any other topics you’d like us to explain, let us know on podcast@genomicsengland.co.uk. You can download the transcript or read it below. Florence: What do we mean by the word equity? My name is Florence Cornish, and today I'm joined by Sasha Henriques, who is Director of Aquity assurance here at Genomics England, and also has a PhD specifically looking at social justice in genomics. And Sasha is here with us today to tell us much more about the topic. So Sasha, I think with this topic, when it comes to discussing equity in healthcare, a good place to start might be by acknowledging that not everyone has the same experience with accessing healthcare or the same outcomes even when they do access it. Could you maybe tell us a bit more about why that is and what factors are at play there? Sasha: Hi, Florence. Thanks. It's a really interesting question because it's a really big problem. So, the reasons that we don't have access to the same things can have multiple different ways that we're affected, from where we're born, to the schools that we go to, to the education that we have access to. Lots of those things are outside of our control, and they're determined by the political landscape that we're born into, whether we're born in a rich country or a poor country, or a rich part of the country or a poorer part of the country. So those are kind of the structural things that might make things different. So, when we come to access healthcare, there might be different healthcare that's available to us. We might be able to negotiate the system differently because of what we understand about how healthcare works and what's available to us. And then there might be personal things about us that make those things more challenging, so the abilities that we have or don't have, both kind of the ways that we learn, the ways that we hear, the ways that we see. All of those things kind of change our access, so the way the system treats us, but also how we show up in the system are all things that can affect us when we come to engage with healthcare. Florence: And obviously, the topic of this podcast is equity, and we hear this word equity a lot, especially in conversations around healthcare and genomics. But could you explain for any listeners who maybe aren't quite sure what exactly equity actually means? Sasha: Yeah. So I think lots of times people hear equity, and they think it's just about fairness, and it's just about treating everybody the same way. But what equity does is that conversation, that question that you asked me about, like, why do people experience healthcare different, there are all sorts of places in our lives where we will have different access, different benefits, different ways that we can participate. And what equity says is that because we're all different in those different ways and we have different needs, different ways that we're discriminated against, and different ways that we're privileged, what equity means is how do we design a system, how do we offer something or do something that enables everyone to have the same outcome of that benefit? So for example, you could make a research leaflet really easy for everybody to access. And what that would mean is that everybody gains more access to that information. But if you are discriminated against because of the way that you read information or the way that you access information, that's not really helped you. So it's helped everybody, so we can move everybody along, and that's kind of what we would call equality. But actually, you don't all get the same outcome at the end. And what equity means is that we understand the different needs that people have so that when we look at where everybody arrives to at the end, that's where we see the benefit, rather than just making a change that's the same for everybody. Florence: Can we dive a little bit deeper into that? That difference between equity and equality. Could you maybe explain a little bit more about that specifically? Sasha: Yeah. I guess there are different ways that people illustrate the difference between equality and equity. And so equality could mean, for instance that everybody needs to get to a certain position, like f
- Aug 26, 202636 min
What if a vaccine could help treat cancer?
In this episode of Behind the Genes, we explore how personalised cancer vaccines are being developed, and how genomics and AI could help make these treatments more precise. Our host, Florence Cornish is joined by: Dr Victoria Goss, Associate Professor of Early Diagnosis and Translational Research at Southampton Clinical Trials Unit and head of the Southampton Clinical Trials Unit Cancer Vaccine Launchpad team Professor Lennard Lee, Associate professor at the University of Oxford, Consultant Medical Oncologist, NHS Ali Richards, a participant who took part in a cancer vaccine clinical trial Together they discuss how cancer vaccines train the immune system to recognise cancer, how genomic information can help identify the unique features of an individual’s tumour, and how AI could help researchers analyse genomic data and accelerate the development of new cancer vaccines. “The reason I said yes was because my treatment really was punishing. It was so many side effects to it. The cancer never made me feel sick, but the treatment made me really sick. So I said yes because I just wanted to help other people not have to go through what I went through.” Transcript [00:00:00] Florence: What if a vaccine could help treat cancer? Hello and welcome to Behind the Genes, the podcast that brings you the stories, research, and innovations shaping the future of genomic healthcare. Today, we're going to be talking about cancer vaccines, how they're being developed with the help of AI, what role genomics has to play, and what it could mean for patients. [00:00:23] Florence: I'm Florence Cornish, and joining me today we have Dr Victoria Goss, who leads cancer vaccine research at Southampton Clinical Trials Unit; we have Professor Lennard Lee, who is a medical oncologist and Associate Professor at the University of Oxford; and Ali Richards, who took part in the Southampton Cancer Vaccine Programme. [00:00:45] Florence: I think before we get into cancer vaccines specifically, it might be good to start with the basics. So vaccines are something most of us have heard of and probably experienced as well, but we don't always necessarily understand how they work. So Lennard, can I come to you to explain what a vaccine actually is, how it works with our immune system, maybe at the most basic level for those who might not have a scientific background? [00:01:19] Lennard: Thanks, Florence. What's a vaccine? Very, very simply, something that protects your body from disease. We've had a few when we were younger, like which protects you against meningitis or hepatitis or different types of infections that can affect children. [00:01:36] Lennard: And it really does show that your immune system is really powerful. Every day, it looks around trying to work out what's there which shouldn't be there and takes care of it. And ideally, your immune system just works in the background without causing any problems. And so what a vaccine does is it really helps the body understand something that's abnormal. [00:01:55] Lennard: And the vision here is that you can use this technology to hopefully patrol against cancer, because half the people out there will never get cancer. They are the maybe the lucky ones or maybe the ones with a good immune response. And so a vaccine is basically giving your immune system a wanted poster: [00:02:11] Lennard: "This is what threat looks like. This is what you need to control". [00:02:16] Florence: And I think you mentioned some great examples there. There are lots of common examples of vaccines people might have heard of. I think maybe the flu vaccine is probably a common one that people are thinking about in the wintertime. I think another one is maybe the HPV vaccine. [00:02:29] Florence: Lennard, could you explain a bit more to our listeners about the HPV vaccine? What it is, how it works? I think people often think of it as a type of cancer vaccine, but actually it's targeting a virus. Is that right? [00:02:41] Lennard: Yeah, that's correct. So this is now a vaccine which has been rolled out across the NHS, and it's actually worked really well to get rid of a few cancer types, which is incredible. [00:02:51] Lennard: And why is that important? Well, cancer can be caused by many, many different things. Sometimes it's because you've done things like smoking or weight plays a role or just bad luck or the genes that you've inherited. But some cancer types are caused by viruses. And so many people nowadays are getting the HPV vaccine to stop cancer types like cervical cancer, hopefully head and neck cancer, and many of the rarer cancer types. [00:03:21] Lennard: And so again, what you're doing here is you're taking the immune response, telling it the body shouldn't get this virus and hopefully prevent some of the ba
- Aug 12, 20268 min
What are cancer vaccines?
In this explainer episode, we’ve asked Dr Antonio D'Alessio, Medical Oncologist at Guys and St Thomas Foundation Trust, to explain cancer vaccines and how they work. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or have any other topics you’d like us to explain, let us know on podcast@genomicsengland.co.uk. You can download the transcript or read it below. Florence: What are cancer vaccines and how do they work? My name is Florence Cornish, and today I'm joined by Antonio D’Alessio, who is a medical oncologist ay Guy's and St Thomas' Foundation Trust and King's College. And he's going to be telling us much more about the topic. So Antonio, before we get into cancer vaccines, I wanted to first ask you about cancer. I know it's a pretty broad term, and it refers to the uncontrolled growth of cells in the body, but maybe it would be helpful for you to explain a little bit more about what cancer actually is, like what that term means, especially for listeners out there who might not have that scientific background. Antonio: Yeah, of course. And first of all, thanks for inviting me today. Well, that's a big question. The point is that we know that in our bodies there are billions of cells, and all of these cells, they divide, they do their job, and they know when to die on schedule. The point is that sometimes there are cells that ignore this instruction and just keep reproducing and growing, and this is when cancer grows. Our bodies have systems, which is the immune system, to recognize when this happens so that the immune system can recognize the cancer cells that are growing too much. They attack them and destroy them. But unfortunately, sometimes cancer is quite clever, they manage to escape from the immune system and starts growing without control, and that's when cancer starts. Florence: And so, what are the standard treatments that we use for cancer at the moment? Antonio: Well, broadly speaking, I would say that we have three types of cancer treatments. One, it's surgery, where we just cut the cancer out. Then we have radiotherapy, where we basically induce targeted damage to the cancer. And then we have a very broad umbrella term that is systemic therapy. Systemic therapies can be chemotherapy, can be targeted therapies, and that can be immunotherapy. In particular, immunotherapy is quite exciting because over the past 20 years, we have learned how to boost the immune system of patients, so that's the white blood cells, the immune system of patients that can recognize cancer cells and attack them. Sort of imagine that cancers hide behind an invisibility cloak, and immunotherapy helps unveil the cancer so that the immune system can recognize the cancer again and attack it. And vaccines and cancer vaccines are part of this family of immunotherapy drugs. Florence: Yeah so speaking about that, I think lots of listeners might have heard of the term cancer vaccine before, obviously, its the topic of this episode. And I think the term cancer vaccine sounds very interesting and promising, but also maybe a little bit intimidating as well. So maybe you could tell me more about what a cancer vaccine is kind of at the most basic level. Antonio: Well, cancer vaccine is a vaccine, and we have received so many vaccines in our lives that our body basically has learnt already how to process a vaccine. Imagine a vaccine as a wanted poster. So, we give the body the instructions to recognise something that shouldn't be there, and the immune system knows how to do it. So, the job of the immune system is to recognize strangers in our bodies - that can be microbes, bacteria, viruses, and also cancers. And sometimes with a vaccine, we sort of help the immune system to do its job a bit better. And with vaccines, we provide the instructions to recognize these strangers in our body and help the immune system to, to get rid of them. And in particular, for cancer vaccines, we have different types of cancer vaccines. There's a family of cancer vaccines that are called preventative, where we can try to give a vaccine even before the cancer develops to reduce the risk that the cancer develops. And, this is more early in the development. While we have, another family of cancer vaccine, which are mostly mRNA cancer vaccines that are called therapeutic. So these are cancer vaccines that are given to patients who already have cancer, maybe who had the surgery for their cancers, so that the aim of the cancer vaccine is t
- Jul 29, 202631 min
What happens after a new rare genetic condition is discovered?
Two years after researchers identified ReNU syndrome, where are we now? In 2024, two independent research teams identified the genetic cause of ReNU syndrome, a rare neurodevelopmental condition affecting thousands of people worldwide. The discovery marked the beginning of a new chapter for families searching for answers and opened up exciting new avenues for research. In this episode, host Sharon Jones revisits the story to explore what has happened since that breakthrough. She is joined by: Professor Nicky Whiffin, Associate Professor and Wellcome Career Development Fellow at Big Data Institute and Centre for Human Genetics, University of Oxford Christina Cox, Co-founder of ReNU Syndrome UK and parent of a child with ReNU syndrome Dr Ana Lisa Tavares, Clinical Lead for Rare Disease at Genomics England Together, they discuss how researchers around the world have built on the original discovery to deepen our understanding of ReNU syndrome, why studying the non-coding regions of our DNA is revealing previously unknown rare conditions, and how collaboration between researchers, clinicians and families is accelerating progress. They also explore how the growing ReNU community is supporting newly diagnosed families and what the future could hold for new treatments. Links: Previous episode detailing the discovery of ReNU Syndrome ReNU Syndrome UK's website Original research paper from Nicky's team in Oxford Original research paper from the team based in New York “It's been only two years since our paper came out about this, and in that time, there are now patient family groups that have been set up all around the world. There is the one in the UK led by Christina and the others. There's the one in the US that's led by a group of four women, and there are ones in France, Spain, like, literally all around the world. And all of these groups are also somewhat coordinated. The leads of these groups meet with each other. They've organised meetups. I've been to ones in the US, the UK, and in France. So the fact that they can mobilise all of that and create such a community so quickly is absolutely incredible.” You can download the transcript, or read it below. [00:00:00] Sharon: In 2024, two independent research teams identified a genetic cause of a rare neurodevelopmental condition affecting thousands of people around the world. Since then, that initial groundbreaking discovery has grown into something much bigger, bringing together families, researchers, and clinicians, and building a clearer picture of what we now know as ReNU syndrome. [00:00:26] Sharon: Welcome to Behind the Genes, the podcast that covers everything from cutting-edge research to real-life stories in genomic healthcare. I'm Sharon Jones, and in today's episode, we're looking at what's happened since that discovery, what researchers are continuing to learn, and what the future could hold for people living with ReNU Syndrome and their families. [00:00:46] Sharon: To help us understand more, I'm joined by Professor Nicky Whiffin, Christina Cox, and Dr. Ana Lisa Tavares. So, two papers were published around the same time for this condition. To start us off, Nicky, you worked on one of these papers. Could you explain how this journey first began? [00:01:05] Nicky: Yeah, so this was two years ago now, back in early 2024, where two research teams, so us based in Oxford and a, a group based in New York, were both looking at the data within the National Genomics Research Library, and we both kind of somewhat simultaneously found that there was variance in this very, very small gene, it's called RNU4-2, were found in individuals with previously undiagnosed neurodevelopmental disorders. [00:01:39] Nicky: And this was very, very striking because we initially actually identified the same single DNA change or mutation in 40 or so different individuals within the National Genomics Research Library, and we normally expect to see a whole host of different variants. We don't expect to see the same one. [00:01:59] Nicky: So this was a really, really surprising finding. And it was through a collaboration, large scale collaboration across the world where we started contacting our other collaborators who have similar collections of patients who have been genome sequenced to
- Jul 15, 20269 min
What is genomics?
In this explainer episode, we’ve asked Ella Davyson, Genomics Data Scientist, to explain the meaning of the term genomics. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or have any other topics you’d like us to explain, let us know on podcast@genomicsengland.co.uk. You can download the transcript or read it below. [00:00:00] Florence: What is genomics? My name is Florence Cornish, and today I'm joined by Ella Davyson, who is a genomics data scientist here at Genomics England, and she is here to explain the topic in much more detail So, Ella, we obviously both work at Genomics England. This podcast is called Genomics 101, so I guess it's fitting that we have an episode dedicated to explaining the term 'genomics'. [00:00:26] But before we get into that, I think it would be good if you could first explain what we mean by the term 'genome'. [00:00:32] Ella: Thanks, Florence. The genome is, essentially you can think of it like a manual booklet, or instructions that the body uses in how to grow, survive, and function, and this is a manual that's in every single cell within our body, and it tells our cells exactly how to divide, how to survive. [00:00:54] For example, the genome in the pancreas, in pancreatic cells will tell those cells how to produce proteins such as insulin that we need to control our blood sugar. And also, the genome within our eye cells will tell the cells how to generate photoreceptors to enable us to see. So the genome is essentially like the ultimate guide that our body uses to tell it how to create everything that we need to survive going forwards. [00:01:25] Florence: So then, what do we mean by the term 'genomics'? [00:01:30] Ella: So, genomics is essentially the study of the entire human genome. So we study its structure and also how it functions, in terms of how is this instruction manual being read by the body, and how does that result in healthy human beings that we see today. [00:01:48] Florence: So when we're talking about studying DNA, lots of our listeners might have heard the term 'genetics', which kind of also refers to the study of DNA and genes, so it might be a little bit confusing. [00:01:58] So what's the difference between the two? What's the difference between genetics and genomics? [00:02:04] Ella: So genetics is specifically the study of genes in the genome, and genes are part of the instruction manual, that specifically tell the body to produce a certain thing. So, in our insulin example, there is an INS gene, so, which is the gene in the genome or the instruction manual that specifically tells the cells to make insulin and to produce this product. [00:02:30] There are many different genes in our genome, and genetics is the study of all of these. In contrast, genomics is the study of the entire instruction manual altogether, so that includes all of the genes in genetics and also everything else in the manual. So, genetics is limited to the study of these parts of the manual that clearly encode certain proteins or products such as insulin. Genomics is the study of everything all at once, everything under the bathroom sink. So yeah, the confusion I think can arise a lot because historically when we first started looking at DNA and researching genetics, we didn't have the technology to look at the whole genome all at once, and with older sequencing technologies we would focus on particular genes that we knew important for certain diseases. [00:03:19] So in diabetes, for example, they would instead specifically look at the insulin gene and see how does this influence diabetes, rather than looking at the entire instruction manual at once. Nowadays, we do have that technology, and that is what we do here at Genomics England, just use that to look at the entire genome rather than specific subsets of the genome, so specific genes. [00:03:45] We can look at everything in its entirety. So, you can kind of think of genomics as a much broader, more complete study of genetics. [00:03:56] Florence: So speaking of genomic testing, I don't know if you saw, but in the government's 10-year Health Plan that they published last year, they predicted that genomics could play a role in up to 50% of healthcare interactions. [00:04:08] Could you tell me a bit about why geno
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Inquiring Minds
Explores the intersection of science and society through critical thinking and in-depth analysis.
In the Interim...
Explores Bayesian statistics and adaptive clinical trial designs in medical research with insights from industry experts.
The World, the Universe and Us
Explores big scientific questions about life, consciousness, climate, and the cosmos with expert scientists and New Scientist journalists.
Discovery
Explores various topics in the field of science.
A Shot in the Arm Podcast
Ben Plumley
Health Discovered
Doctors explore surprising stories to uncover insights about health and well-being.
Science Weekly
The Guardian provides weekly updates on the latest science and environment news.
Frankly Speaking About Family Medicine
Discusses current topics and developments in primary care and family medicine.
Unexpected Elements
Explores hidden scientific connections behind global news and everyday phenomena.
About Behind the Genes
At Genomics England, our vision is a world where everyone benefits from genomic healthcare. From the latest research to the lived experiences of those affected by rare conditions and cancer, Behind the Genes brings you closer to the people behind the science. Each month, we release a deep-dive episode, alongside our Genomics 101 series - short explainers designed to make complex terms in genetics and genomics easier to understand.
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Frequently Asked Questions
What is Podzilla's Behind the Genes daily summary?
It's a free AI-powered email that summarizes new episodes of Behind the Genes as soon as they're published. You get the key takeaways, notable quotes, and links & mentions — all in a quick read.
How does the Behind the Genes podcast summary work?
When a new episode drops, our AI transcribes and analyzes it, then generates a personalized summary tailored to your interests and profession. It's delivered to your inbox every morning.
Is this an official Behind the Genes product?
No. Podzilla is an independent service that summarizes publicly available podcast content. We're not affiliated with or endorsed by Genomics England.
Can I get summaries of other podcasts too?
Absolutely! The free plan covers up to 3 podcasts, any in the catalog. Basic raises that to 15, Pro to 40 and Max to 100. Browse our full catalog at /podcasts.
How often does Behind the Genes release new episodes?
Behind the Genes publishes biweekly. Our AI generates a summary within hours of each new episode.
What topics does Behind the Genes cover?
Behind the Genes covers topics including Science. Our AI identifies the specific themes in each episode and highlights what matters most to you.
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Free forever for up to 3 podcasts. No credit card required.